Sistema de Salut de Catalunya
Institut Català de la Salut
[Blondeaux E] Clinical Epidemiology Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy. [Arecco L] Department of Internal Medicine and Medical Specialties (DiMI), School of Medicine, University of Genova, Genoa, Italy. Department of Medical Oncology, U.O. Clinica di Oncologia Medica, IRCCS Ospedale Policlinico San Martino, Genoa, Italy. [Punie K] Department of General Medical Oncology, University Hospitals Leuven, KU Leuven, Leuven, Belgium. [Graffeo R] Oncology Institute of Southern Switzerland, EOC, Bellinzona, Switzerland. [Toss A] Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy. [De Angelis C] Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy. [Balmaña J] Servei d’Oncologia Mèdica, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
2023-03-07T13:27:49Z
2023-03-07T13:27:49Z
2023-03
Breast cancer; Prognosis; Treatment
Cáncer de mama; Pronóstico; Tratamiento
Càncer de mama; Pronòstic; Tractament
Approximately 10% of breast cancers are associated with the inheritance of a pathogenic variant (PV) in one of the breast cancer susceptibility genes. Multiple breast cancer predisposing genes, including TP53, are responsible for the increased breast cancer risk. Tumor protein-53 (TP53) germline PVs are associated with Li-Fraumeni syndrome, a rare autosomal dominant inherited cancer predisposition syndrome associated with early-onset pediatric and multiple primary cancers such as soft tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinomas and leukemias. Women harboring a TP53 PV carry a lifetime risk of developing breast cancer of 80–90%. The aim of the present narrative review is to provide a comprehensive overview of the criteria for offering TP53 testing, prevalence of TP53 carriers among patients with breast cancer, and what is known about its prognostic and therapeutic implications. A summary of the current indications of secondary cancer surveillance and survivorship issues are also provided. Finally, the spectrum of TP53 alteration and testing is discussed. The optimal strategies for the treatment of breast cancer in patients harboring TP53 PVs poses certain challenges. Current guidelines favor the option of performing mastectomy rather than lumpectomy to avoid adjuvant radiotherapy and subsequent risk of radiation-induced second primary malignancies, with careful consideration of radiation when indicated post-mastectomy. Some studies suggest that patients with breast cancer and germline TP53 PV might have worse survival outcomes compared to patients with breast cancer and wild type germline TP53 status. Annual breast magnetic resonance imaging (MRI) and whole-body MRI are recommended as secondary prevention.
The project was partially funded by a Gilead Sciences Medical Grant (Fellowship Program 2022) (no grant number).
Article
Published version
English
Mama - Càncer - Aspectes genètics; Mama - Càncer - Tractament; Cromosomes humans - Anomalies - Diagnòstic; DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms; Other subheadings::Other subheadings::Other subheadings::/genetics; PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing; ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama; Otros calificadores::Otros calificadores::Otros calificadores::/genética; FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas
Elsevier
Cancer Treatment Reviews;114
https://doi.org/10.1016/j.ctrv.2023.102522
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
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